Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAMK2B_chr7_44212154_44330594	44227417	GGGGTGTG others(326): Show GGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGA CAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGG GACAGAGGGGGATATGGGGGACAGAGGGAGTGTAGGGGACAGAGGAGGGT CTGGGGGGCAGAGGGAGAGTGTGGGGGACAGGGGGTGTGGGGGACAGAGG GAGTGTGGGGGACAGAGGAGGGTCTGGAGGACAGAGGGAGAGTGTAGGGA ACAGAGGGGGTGTGGGGGACAGAAAAGGGCGTGAAGGGACCAAGGTGGGT GTGGGGGACAGAGGGGTATATGGGGGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00639.hp2 others(32): Show HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03492.hp2 HG03579.hp2 HG04228.hp2 NA18979.hp2 NA18982.hp2 NA18990.hp2 NA18995.hp1 NA19057.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0017	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0028 a0001c0004t0002 a0001c0006t0002 a0003c0017t0002	a0001c0001t0002g0017 a0001c0001t0002g0103 a0001c0001t0002g0104 others(31): Show a0001c0001t0002g0017 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0172 a0001c0001t0002g0212 a0001c0001t0002g0232 a0001c0001t0005g0005 a0001c0001t0005g0099 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0025g0231 a0001c0001t0027g0207 a0001c0001t0029g0120 a0001c0003t0002g0054 a0001c0003t0002g0058 a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0002g0090 a0001c0003t0003g0046 a0001c0003t0005g0056 a0001c0003t0028g0047 a0001c0004t0002g0026 a0001c0006t0002g0091 a0003c0017t0002g0052	35	242	0.1446	-333	c.146 others(18): Show c.1468+1046_1469-774del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CDH8_chr16_61642250_62041438	62012957	TAAATTAA others(326): Show TAAATTAACTACTTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01071.hp1 HG01109.hp2 HG01168.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0078 a0001c0001t0079 a0001c0002t0004 a0001c0002t0014 a0001c0002t0023 a0001c0002t0028 a0001c0002t0029 a0001c0002t0075 a0001c0002t0076 a0001c0003t0002 a0001c0007t0065 a0001c0008t0011 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0001g0101 a0001c0001t0001g0104 others(109): Show a0001c0001t0001g0037 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0156 a0001c0001t0003g0161 a0001c0001t0005g0100 a0001c0001t0005g0164 a0001c0001t0006g0097 a0001c0001t0006g0137 a0001c0001t0006g0162 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0146 a0001c0001t0007g0159 a0001c0001t0008g0087 a0001c0001t0008g0112 a0001c0001t0008g0115 a0001c0001t0008g0120 a0001c0001t0009g0041 a0001c0001t0009g0113 a0001c0001t0010g0084 a0001c0001t0011g0093 a0001c0001t0011g0125 a0001c0001t0012g0095 a0001c0001t0012g0108 a0001c0001t0012g0158 a0001c0001t0013g0126 a0001c0001t0015g0004 a0001c0001t0015g0010 a0001c0001t0016g0015 a0001c0001t0017g0116 a0001c0001t0020g0102 a0001c0001t0020g0103 a0001c0001t0022g0145 a0001c0001t0024g0002 a0001c0001t0025g0007 a0001c0001t0026g0006 a0001c0001t0027g0009 a0001c0001t0030g0003 a0001c0001t0031g0012 a0001c0001t0032g0014 a0001c0001t0033g0013 a0001c0001t0034g0011 a0001c0001t0035g0018 a0001c0001t0036g0016 a0001c0001t0037g0019 a0001c0001t0040g0105 a0001c0001t0043g0110 a0001c0001t0045g0088 a0001c0001t0047g0077 a0001c0001t0050g0127 a0001c0001t0051g0035 a0001c0001t0052g0121 a0001c0001t0053g0032 a0001c0001t0055g0147 a0001c0001t0056g0106 a0001c0001t0059g0154 a0001c0001t0060g0114 a0001c0001t0061g0090 a0001c0001t0066g0165 a0001c0001t0067g0082 a0001c0001t0068g0080 a0001c0001t0070g0123 a0001c0001t0071g0089 a0001c0001t0078g0139 a0001c0001t0079g0081 a0001c0002t0004g0094 a0001c0002t0004g0128 a0001c0002t0004g0130 a0001c0002t0004g0140 a0001c0002t0004g0153 a0001c0002t0014g0078 a0001c0002t0014g0086 a0001c0002t0014g0129 a0001c0002t0023g0001 a0001c0002t0028g0008 a0001c0002t0029g0005 a0001c0002t0075g0099 a0001c0002t0076g0124 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0007t0065g0118 a0001c0008t0011g0151 a0003c0004t0016g0017	112	168	0.6667	-333	c.252 others(17): Show c.252+7862_252+8194del		CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11						chr16	TogoVar
CEP72_chr5_607340_658553	650406	CTGTGGGT others(326): Show CTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGTGTGAGGTGTGACTG TGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0023	1	91	0.0110	-333	c.177 others(19): Show c.1778+2493_1779-2247del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CREG2_chr2_101340550_101392503	101358741	TGAGAACT others(326): Show TGAGAACTGAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0003c0003t0018 a0003c0003t0023	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(160): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0048 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0004g0002 a0001c0001t0004g0035 a0001c0001t0004g0046 a0001c0001t0004g0141 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0007g0083 a0001c0001t0007g0118 a0001c0001t0008g0028 a0001c0001t0008g0034 a0001c0001t0008g0106 a0001c0001t0008g0146 a0001c0001t0010g0014 a0001c0001t0010g0032 a0001c0001t0012g0088 a0001c0001t0012g0122 a0001c0001t0012g0123 a0001c0001t0012g0132 a0001c0001t0018g0196 a0001c0001t0018g0224 a0001c0001t0022g0047 a0001c0001t0022g0267 a0001c0001t0023g0195 a0001c0001t0024g0108 a0001c0001t0024g0109 a0001c0001t0025g0031 a0001c0001t0030g0049 a0001c0001t0032g0113 a0001c0001t0033g0147 a0001c0001t0034g0124 a0001c0001t0035g0100 a0001c0001t0036g0093 a0001c0001t0037g0125 a0001c0001t0038g0126 a0001c0001t0039g0254 a0001c0001t0040g0154 a0001c0001t0041g0226 a0001c0001t0042g0140 a0001c0001t0043g0103 a0001c0001t0044g0247 a0001c0001t0054g0210 a0001c0001t0056g0278 a0001c0001t0057g0268 a0001c0001t0058g0286 a0001c0001t0059g0282 a0001c0001t0060g0265 a0001c0001t0061g0277 a0003c0003t0018g0071 a0003c0003t0023g0070	233	388	0.6005	-333	c.612 others(17): Show c.612-3708_612-3376del		CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding	2/3						chr2	TogoVar
CRTC3_chr15_90524923_90650345	90630742	TCTATTAC others(326): Show TCTATTACAGCATCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(145): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0009 a0003c0003 a0004c0005 a0005c0008 a0007c0016	a0001c0001t0001 a0001c0001t0010 a0001c0007t0001 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0007t0001 a0002c0002t0001 a0002c0002t0018 a0002c0002t0022 a0002c0002t0028 a0002c0002t0044 a0002c0002t0048 a0002c0009t0001 a0003c0003t0001 a0003c0003t0027 a0004c0005t0001 a0004c0005t0045 a0005c0008t0001 a0007c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0010g0035 a0001c0001t0010g0141 a0001c0001t0010g0142 a0001c0007t0001g0205 a0001c0007t0001g0206 a0002c0002t0001g0027 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0193 a0002c0002t0018g0119 a0002c0002t0022g0107 a0002c0002t0028g0081 a0002c0002t0044g0021 a0002c0002t0048g0089 a0002c0009t0001g0098 a0003c0003t0001g0045 a0003c0003t0001g0060 a0003c0003t0001g0184 a0003c0003t0001g0204 a0003c0003t0001g0210 a0003c0003t0001g0215 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0234 a0003c0003t0001g0262 a0003c0003t0001g0266 a0003c0003t0027g0022 a0004c0005t0001g0084 a0004c0005t0001g0091 a0004c0005t0045g0132 a0005c0008t0001g0259 a0007c0016t0001g0237	148	276	0.5362	-333	c.126 others(19): Show c.1266+1227_1266+1559del		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
DCP1A_chr3_53278429_53352543	53327530	TTGTAATC others(326): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGCC AGGAGTTCAAGACCAGCCTGGCCAACATAGTAAAACCCCATCTCTACTAA AAATACAAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCT ACTGGTGAGGCCGAGGCAGAAGAATTGCTTGAGCCTGGGAGGCAGAGGTT GCGGTGAGCTGAGATTGTGCCAGTGCACTCCAGTCTGGGCAACAGAGCAA GATTCCACCTCAAAAAAACAAAACAAAACAACAACAAAAAAACAACAACA ACAAAAACAAAGGCCGGGCGTGGTGGCTCACGTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0096 a0001c0001t0017g0097 a0001c0001t0010g0096 a0001c0001t0017g0097	2	366	0.0055	-333	c.305 others(17): Show c.305-8390_305-8058del		DCP1A	ENSG00000272886.6	transcript	ENST00000610213.6	protein_coding	3/9						chr3	TogoVar
DMRTB1_chr1_53454399_53472488	53467914	TGTGTTTC others(326): Show TGTGTTTCTACTAGATTCAGAACTTGACAGTTCCCAGCTCTGCCCATGAG GAACATGACATCTAGTGGGAGAGACAGAGAGTCTTAGGGGATTCATACTA GAACAGAGAGGTAGGGAGGCTGTGGGAGTGGTCAGAGAAAGCCTTCTGCA GGAGTCAGGGCCTCAACCACAACATAAGGGGCAATAATGAGTTAGGCAGA GAAGAAAGAGATGAGTACTCCCAGTAAGGATGCAGAGGAGGATGGGGACC TGGTGTGAAGGATTCCATGGTCAGGGCAGTGTCCTGTTCTCTGTCCAGGG AAGGGCTGGCACCCAAGAGAACAGGTCAACTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	-333	c.12 others(11): Show c.1253_*1585del		DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding					427		chr1	TogoVar
DYNLRB1_chr20_34511422_34545958	34528006	TAAAAACT others(326): Show TAAAAACTACCCTACTGGAGTAGCCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(166): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0030 a0001c0002t0001g0050 a0001c0002t0001g0161 a0002c0004t0001g0109	169	384	0.4401	-333	c.79+ others(15): Show c.79+1684_79+2016del		DYNLRB1	ENSG00000125971.18	transcript	ENST00000357156.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
EPS8L1_chr19_55070869_55092923	55078235	AGTCAGAG others(326): Show AGTCAGAGGGAAGAGGTGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGG TCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAG GGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCT GGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTC AGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0174 a0007c0011t0001g0174	1	340	0.0029	-333	c.58+ others(13): Show c.58+123_59-416del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078505	AGAGGGGC others(326): Show AGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTG AGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGC CTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGGG TCAGAGGGAGGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAG GGGCTGGGGGCCTGGACTCCTGGGTTTGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	340	0.0029	-333	c.58+ others(13): Show c.58+391_59-148del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95955394	TTTGACTT others(326): Show TTTGACTTATGTACATGTAAAACCATCACCACAATTAACATAATAAACAT ACCCATCATCCCAGAATTTTCCTTCTGCCCCTTTGTGACCCACCTCTCCC ATTCTTCCCCATCCCCTTATCCCCAAGCAACCACTAGTCTGCTTTCTGGC ACTATGGATTAGTTGGCATTTTGGGGATTTTTATATAAATGAAATCTTTG GGGAACAATCTGTAAGCTTAAAGCTGCTATAAAAGAAAAACCTGAATTTA GGAAATGTTTTTAGACAGTGGAAAGTGATGTTTATAACAAAAATGAAGTT GATACTTGTAGGTTTTCTGTAATATTTTTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02647.hp2 others(1): Show HG02109.hp2 HG02258.hp1 HG02647.hp2 HG02809.hp2	a0008 a0010 a0008 a0010	a0008c0011 a0010c0012 a0008c0011 a0010c0012	a0008c0011t0020 a0010c0012t0020 a0008c0011t0020 a0010c0012t0020	a0008c0011t0020g0015 a0010c0012t0020g0370 a0010c0012t0020g0371 a0008c0011t0020g0015 a0010c0012t0020g0370 a0010c0012t0020g0371	4	392	0.0102	-333	c.184 others(17): Show c.1848-517_1848-185del		ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109356	TCTCCCTC others(326): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02132.hp2 HG02735.hp1 others(5): Show HG01099.hp2 HG02132.hp2 HG02735.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 NA18998.hp2 NA19001.hp1	a0000 a0001 a0007 others(3): Show a0000 a0001 a0007 a0009 a0013 a0019	a0000c0043 a0001c0020 a0007c0018 others(4): Show a0000c0043 a0001c0020 a0007c0018 a0007c0023 a0009c0019 a0013c0026 a0019c0071	a0000c0043t0005 a0001c0020t0002 a0007c0018t0001 others(4): Show a0000c0043t0005 a0001c0020t0002 a0007c0018t0001 a0007c0023t0001 a0009c0019t0002 a0013c0026t0004 a0019c0071t0002	a0000c0043t0005g0180 a0001c0020t0002g0182 a0007c0018t0001g0344 others(5): Show a0000c0043t0005g0180 a0001c0020t0002g0182 a0007c0018t0001g0344 a0007c0018t0001g0347 a0007c0023t0001g0348 a0009c0019t0002g0105 a0013c0026t0004g0325 a0019c0071t0002g0148	8	404	0.0198	-333	c.197 others(17): Show c.1977-666_1977-334del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBN3_chr19_8060402_8154592	8153960	CATCTCGG others(326): Show CATCTCGGCTCACTGCAACCTCCACCTCCCAGTTTAAGTGATTCTCCTGT TTTAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGTCTGGC TAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGTCTG GTCTTGAACTCCAGACCTCAGGTGATCCACCTGCCTCGGTCCCAAACTGT GGGGATTACAAGTGTGAGCCACCGCGCCTGACCCCTAGTGGATGTTCTCT TTTTTTGGTTTTTGTCCTCCCCGGACCGCCCCCGCCCCGAGATGCAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0116 a0116	a0116c0208 a0116c0208	a0116c0208t0001 a0116c0208t0001	a0116c0208t0001g0191 a0116c0208t0001g0191	1	380	0.0026	-333	c.-48 others(11): Show c.-4862_-4530del		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding					4369		chr19	TogoVar
GALNT9_chr12_132191372_132334589	132231677	CGTGGAGT others(326): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAG CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	183	0.0055	-333	c.107 others(21): Show c.1077+15900_1077+16232del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231732	TCCCTAGT others(326): Show TCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCT AGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0103	1	183	0.0055	-333	c.107 others(21): Show c.1077+15845_1077+16177del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48834493	TCTGGACT others(326): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG03704.hp2 others(2): Show HG00741.hp1 HG01256.hp1 HG03704.hp2 NA19074.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 others(2): Show a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0345	5	394	0.0127	-333	c.128 others(15): Show c.128-468_128-136del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
INPP5E_chr9_136423619_136444845	136431229	GCAGGCCC others(326): Show GCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCC TCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTC CTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCC CTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGC CCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCC CAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCT CACCTTTCCTCATCTCCCGCCACGCCCGCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	382	0.0026	-333	c.154 others(17): Show c.1549+262_1550-113del		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431468	CGCCCGCC others(326): Show CGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCC CCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGC CCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCT CTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCAT CTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCA CGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCC CCCCAGGCCCTCACCTCTCCTCATCTCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG01517.hp2 others(2): Show HG00099.hp2 HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0040 a0001c0003t0003g0056 a0001c0003t0003g0168 others(1): Show a0001c0003t0003g0040 a0001c0003t0003g0056 a0001c0003t0003g0168 a0001c0003t0003g0174	5	382	0.0131	-333	c.154 others(16): Show c.1549+23_1550-352del		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
ITGA1_chr5_52782916_52964209	52935941	ACAGAACA others(326): Show ACAGAACACAGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0015 a0001c0017 a0001c0018 a0001c0021 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0026 a0003c0005 a0003c0008 a0003c0011 a0003c0014 a0004c0016 a0005c0027 a0006c0024 a0007c0022 a0008c0019 a0009c0020 a0010c0023 a0011c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(152): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0068 a0001c0001t0077 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0028 a0001c0002t0030 a0001c0002t0036 a0001c0002t0047 a0001c0002t0049 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0059 a0001c0002t0063 a0001c0002t0069 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0078 a0001c0002t0090 a0001c0002t0093 a0001c0002t0094 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0003t0014 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0003t0046 a0001c0003t0064 a0001c0003t0066 a0001c0003t0076 a0001c0004t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0010 a0001c0004t0013 a0001c0004t0015 a0001c0004t0018 a0001c0004t0020 a0001c0004t0021 a0001c0004t0031 a0001c0004t0079 a0001c0012t0001 a0001c0012t0009 a0001c0012t0025 a0001c0012t0096 a0001c0015t0004 a0001c0017t0092 a0001c0018t0005 a0001c0021t0043 a0002c0006t0002 a0002c0006t0019 a0002c0006t0023 a0002c0006t0026 a0002c0006t0034 a0002c0006t0035 a0002c0006t0070 a0002c0007t0002 a0002c0007t0019 a0002c0009t0002 a0002c0009t0034 a0002c0009t0048 a0002c0010t0002 a0002c0010t0019 a0002c0010t0023 a0002c0010t0035 a0002c0013t0044 a0002c0013t0072 a0002c0026t0071 a0003c0005t0001 a0003c0005t0003 a0003c0005t0004 a0003c0005t0008 a0003c0005t0010 a0003c0005t0021 a0003c0005t0024 a0003c0005t0042 a0003c0005t0081 a0003c0008t0003 a0003c0008t0004 a0003c0008t0008 a0003c0008t0009 a0003c0008t0012 a0003c0008t0086 a0003c0011t0008 a0003c0011t0009 a0003c0014t0003 a0004c0016t0045 a0005c0027t0003 a0006c0024t0002 a0007c0022t0007 a0008c0019t0007 a0009c0020t0001 a0010c0023t0095 a0011c0025t0005	a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0214 others(263): Show a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0003g0105 a0001c0001t0004g0025 a0001c0001t0004g0076 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0128 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0090 a0001c0001t0005g0134 a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0006g0039 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0168 a0001c0001t0006g0236 a0001c0001t0007g0041 a0001c0001t0008g0257 a0001c0001t0009g0246 a0001c0001t0009g0254 a0001c0001t0009g0298 a0001c0001t0010g0102 a0001c0001t0010g0165 a0001c0001t0011g0272 a0001c0001t0015g0288 a0001c0001t0016g0017 a0001c0001t0016g0086 a0001c0001t0016g0093 a0001c0001t0017g0082 a0001c0001t0017g0119 a0001c0001t0017g0167 a0001c0001t0017g0169 a0001c0001t0018g0008 a0001c0001t0018g0020 a0001c0001t0025g0026 a0001c0001t0025g0031 a0001c0001t0027g0081 a0001c0001t0027g0274 a0001c0001t0028g0277 a0001c0001t0030g0024 a0001c0001t0031g0060 a0001c0001t0032g0237 a0001c0001t0033g0071 a0001c0001t0037g0035 a0001c0001t0037g0175 a0001c0001t0039g0253 a0001c0001t0040g0308 a0001c0001t0050g0273 a0001c0001t0052g0317 a0001c0001t0056g0261 a0001c0001t0057g0316 a0001c0001t0058g0021 a0001c0001t0060g0174 a0001c0001t0061g0178 a0001c0001t0062g0225 a0001c0001t0065g0218 a0001c0001t0068g0063 a0001c0001t0077g0173 a0001c0001t0080g0028 a0001c0001t0082g0068 a0001c0001t0083g0089 a0001c0001t0085g0129 a0001c0001t0087g0242 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0080 a0001c0002t0001g0097 a0001c0002t0001g0111 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0233 a0001c0002t0003g0075 a0001c0002t0003g0113 a0001c0002t0003g0170 a0001c0002t0003g0235 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0193 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0210 a0001c0002t0005g0030 a0001c0002t0005g0133 a0001c0002t0005g0190 a0001c0002t0006g0005 a0001c0002t0006g0012 a0001c0002t0006g0096 a0001c0002t0007g0049 a0001c0002t0007g0199 a0001c0002t0008g0280 a0001c0002t0009g0286 a0001c0002t0010g0153 a0001c0002t0010g0228 a0001c0002t0010g0230 a0001c0002t0012g0251 a0001c0002t0012g0252 a0001c0002t0013g0265 a0001c0002t0014g0050 a0001c0002t0014g0051 a0001c0002t0014g0137 a0001c0002t0014g0179 a0001c0002t0015g0293 a0001c0002t0016g0085 a0001c0002t0018g0160 a0001c0002t0022g0276 a0001c0002t0028g0289 a0001c0002t0030g0189 a0001c0002t0036g0034 a0001c0002t0036g0234 a0001c0002t0047g0247 a0001c0002t0049g0271 a0001c0002t0053g0292 a0001c0002t0054g0243 a0001c0002t0055g0285 a0001c0002t0059g0016 a0001c0002t0063g0091 a0001c0002t0069g0104 a0001c0002t0073g0118 a0001c0002t0074g0158 a0001c0002t0075g0029 a0001c0002t0078g0018 a0001c0002t0090g0083 a0001c0002t0093g0150 a0001c0002t0094g0217 a0001c0003t0001g0131 a0001c0003t0001g0136 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0226 a0001c0003t0003g0056 a0001c0003t0004g0001 a0001c0003t0004g0239 a0001c0003t0005g0139 a0001c0003t0006g0101 a0001c0003t0006g0200 a0001c0003t0007g0058 a0001c0003t0011g0262 a0001c0003t0012g0269 a0001c0003t0013g0299 a0001c0003t0014g0055 a0001c0003t0020g0245 a0001c0003t0021g0303 a0001c0003t0022g0004 a0001c0003t0046g0279 a0001c0003t0064g0054 a0001c0003t0066g0215 a0001c0003t0076g0009 a0001c0004t0001g0098 a0001c0004t0005g0185 a0001c0004t0005g0186 a0001c0004t0005g0224 a0001c0004t0007g0107 a0001c0004t0007g0196 a0001c0004t0010g0112 a0001c0004t0013g0302 a0001c0004t0015g0282 a0001c0004t0018g0010 a0001c0004t0020g0278 a0001c0004t0021g0256 a0001c0004t0031g0202 a0001c0004t0079g0094 a0001c0012t0001g0059 a0001c0012t0009g0301 a0001c0012t0025g0052 a0001c0012t0096g0062 a0001c0015t0004g0043 a0001c0015t0004g0061 a0001c0017t0092g0191 a0001c0018t0005g0140 a0001c0021t0043g0309 a0002c0006t0002g0014 a0002c0006t0002g0019 a0002c0006t0002g0022 a0002c0006t0002g0033 a0002c0006t0002g0040 a0002c0006t0002g0045 a0002c0006t0002g0078 a0002c0006t0002g0177 a0002c0006t0002g0187 a0002c0006t0002g0238 a0002c0006t0002g0240 a0002c0006t0019g0066 a0002c0006t0019g0213 a0002c0006t0023g0312 a0002c0006t0026g0287 a0002c0006t0026g0307 a0002c0006t0034g0007 a0002c0006t0035g0222 a0002c0006t0070g0006 a0002c0007t0002g0011 a0002c0007t0002g0042 a0002c0007t0002g0047 a0002c0007t0002g0057 a0002c0007t0002g0099 a0002c0007t0002g0152 a0002c0007t0002g0211 a0002c0007t0019g0121 a0002c0009t0002g0053 a0002c0009t0002g0195 a0002c0009t0002g0212 a0002c0009t0034g0188 a0002c0009t0048g0266 a0002c0010t0002g0125 a0002c0010t0019g0151 a0002c0010t0023g0313 a0002c0010t0023g0314 a0002c0010t0035g0100 a0002c0013t0044g0284 a0002c0013t0072g0013 a0002c0026t0071g0038 a0003c0005t0001g0145 a0003c0005t0001g0194 a0003c0005t0001g0220 a0003c0005t0003g0079 a0003c0005t0003g0109 a0003c0005t0003g0149 a0003c0005t0003g0162 a0003c0005t0003g0166 a0003c0005t0003g0192 a0003c0005t0003g0203 a0003c0005t0003g0219 a0003c0005t0003g0229 a0003c0005t0003g0241 a0003c0005t0004g0115 a0003c0005t0004g0231 a0003c0005t0008g0263 a0003c0005t0010g0120 a0003c0005t0021g0258 a0003c0005t0024g0182 a0003c0005t0042g0244 a0003c0005t0081g0146 a0003c0008t0003g0077 a0003c0008t0003g0216 a0003c0008t0004g0124 a0003c0008t0008g0283 a0003c0008t0008g0310 a0003c0008t0009g0311 a0003c0008t0012g0295 a0003c0008t0086g0108 a0003c0011t0008g0296 a0003c0011t0008g0297 a0003c0011t0008g0305 a0003c0011t0009g0260 a0003c0011t0009g0268 a0003c0014t0003g0138 a0003c0014t0003g0198 a0004c0016t0045g0248 a0005c0027t0003g0130 a0006c0024t0002g0103 a0007c0022t0007g0318 a0008c0019t0007g0122 a0009c0020t0001g0142 a0010c0023t0095g0148 a0011c0025t0005g0070	268	322	0.8323	-333	c.296 others(19): Show c.2965-1442_2965-1110del		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNV2_chr9_2712510_2735037	2725152	CACCTTTC others(326): Show CACCTTTCTGTGGATAGATTAATAGATCTCAAACTTACATTTGTGGCTTT GCTTTAGCTGTGCACACCTACCGCTTATTGTACCACTTACAAACATGTCA GAACTGTAATATACAGATGAGGGTTGTTATTATCCTGAAGGTAGTCACCC ATGACCTCATTCTAACAGTGATTCCACTAATCAAGACATTCTTTGAATTC CACTGAGGAATTACCTTCAGAGTTTGTGACACATCCACTTGTTTCTAGGT TGTTAAATCTTTGTCTTTTTAAGGCTACATTCAGTATTTTAAAATAGTTA AGACACTTTAGTTTAAGATCGACACTTAGAGTAA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0004 a0001c0035t0004	a0001c0035t0004g0066 a0001c0035t0004g0066	1	442	0.0023	-333	c.135 others(19): Show c.1357-4290_1357-3958del		KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
KLF17_chr1_44113821_44140140	44139074	TGCCCCCC others(326): Show TGCCCCCCATAGAGGGCCTGGTTACCAGTGGAGGTCGTCACCTGCTCCCC ACAGAGGGTCTGGTTACTAGTGGAGGTCGTCATCTGCTCTCCACAGAGGG TCTGGTTACTAGTGGAGGTCGTGATCTGCCCCCTGTAGAGGGCCTGGTTA CCAGTGGAGGTCGTCACCTGCTCCCCACAGAGGGTCTGGTTACTAGTGGG GGTCGTCATCTGCTCTCCACAGAGGGTCTGGTTACTAGTAGAGGTCGTCA TCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCT CCACAGAGGTTCTGGTTACCAGTGGAGGTCATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01167.hp2 others(24): Show HG00280.hp1 HG00639.hp1 HG01167.hp2 HG01261.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02148.hp2 HG02293.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp1 NA18962.hp2 NA18965.hp2 NA18975.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp1 NA19007.hp2 NA19060.hp1 NA19070.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0004c0004 a0005c0005 others(2): Show a0001c0001 a0004c0004 a0005c0005 a0006c0007 a0007c0014	a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 others(2): Show a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 a0006c0007t0001 a0007c0014t0001	a0001c0001t0001g0165 a0004c0004t0001g0028 a0004c0004t0001g0029 others(20): Show a0001c0001t0001g0165 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0141 a0004c0004t0001g0198 a0005c0005t0001g0150 a0006c0007t0001g0073 a0006c0007t0001g0074 a0006c0007t0001g0075 a0006c0007t0001g0076 a0006c0007t0001g0077 a0007c0014t0001g0274	27	444	0.0608	-333	c.58 others(11): Show c.5838_*6170del		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					3935		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139074	TGCCCCCC others(326): Show TGCCCCCCATAGAGGGCCTGGTTACCAGTGGAGGTCGTCACCTGCTCCCC ACAGAGGGTCTGGTTACTAGTGGAGGTCGTCATCTGCTCTCCACAGAGGG TCTGGTTACTAGTGGAGGTCGTGATCTGCCCCCTGTAGAGGGCCTGGTTA CCAGTGGAGGTCGTCACCTGCTCCCCACAGAGGGTCTGGTTACTAGTGGG GGTCGTCATCTGCTCTCCACAGAGGGTCTGGTTACTAGTAGAGGTCGTCA TCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCT CCACAGAGGTTCTGGTTACCAGTGGAGGTCATCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00639.hp1 HG01167.hp1 others(19): Show HG00280.hp1 HG00639.hp1 HG01167.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0011 a0020 others(3): Show a0006 a0011 a0020 a0021 a0026 a0031	a0006c0006 a0011c0015 a0020c0039 others(3): Show a0006c0006 a0011c0015 a0020c0039 a0021c0035 a0026c0023 a0031c0024	a0006c0006t0000 a0011c0015t0000 a0020c0039t0000 others(3): Show a0006c0006t0000 a0011c0015t0000 a0020c0039t0000 a0021c0035t0000 a0026c0023t0000 a0031c0024t0000	a0006c0006t0000g0006 a0011c0015t0000g0015 a0020c0039t0000g0041 others(3): Show a0006c0006t0000g0006 a0011c0015t0000g0015 a0020c0039t0000g0041 a0021c0035t0000g0037 a0026c0023t0000g0023 a0031c0024t0000g0024	22	428	0.0514	-333	c.222 others(9): Show c.2225_2557del	p.Met others(19): Show p.Met742_Gln853delinsLys	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2557/3159	2225/3159	742/1052			chr1	TogoVar
KLKB1_chr4_186222507_186263471	186238974	GGACAGTG others(326): Show GGACAGTGATATAGGACAGTGATATTGTTATAGTTATAGGAAACTAGTAC AGTGATACTGTTAGAGTTATAGGTACAGTGATATTGTTATAGTTATAGGA AACTAGTACAGTGATACTGTTACAGGTACAGTGATATAGGACAGTGATAC TGTTATAGGAAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGTGA CATAGGACAGTGATACTGTTATAGTTATAGGAAACTAGTACAGTGATACT GTTAGAGTTATAGGTAGAGTGATATAGGACAGTGATACTGTTATAGTTAT AGAAAACTAGTACAGTGATACTGTTATAGTTATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0154 a0011c0016t0001g0154	1	432	0.0023	-333	c.598 others(15): Show c.598+611_598+943del		KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
LPP_chr3_188149157_188895671	188587043	TAAAGAAA others(326): Show TAAAGAAAGTTGGCGCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(67): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG01978.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0002c0007 a0002c0008 a0002c0015 a0003c0009 a0003c0011 a0004c0010 a0004c0017 a0005c0016 a0006c0013 a0007c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(63): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0049 a0001c0001t0051 a0001c0001t0055 a0001c0001t0057 a0001c0001t0061 a0001c0002t0001 a0001c0002t0010 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019 a0001c0002t0024 a0001c0002t0050 a0001c0002t0054 a0001c0002t0058 a0001c0005t0030 a0001c0005t0031 a0001c0005t0036 a0001c0005t0040 a0001c0005t0042 a0001c0005t0063 a0001c0006t0032 a0001c0006t0034 a0001c0006t0041 a0001c0006t0064 a0001c0006t0066 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0013 a0002c0003t0022 a0002c0003t0023 a0002c0003t0029 a0002c0003t0052 a0002c0003t0053 a0002c0003t0056 a0002c0003t0059 a0002c0004t0003 a0002c0004t0012 a0002c0004t0033 a0002c0004t0039 a0002c0004t0067 a0002c0004t0068 a0002c0007t0002 a0002c0007t0007 a0002c0007t0021 a0002c0008t0027 a0002c0008t0060 a0002c0015t0037 a0003c0009t0015 a0003c0009t0062 a0003c0011t0004 a0004c0010t0035 a0004c0010t0038 a0004c0017t0044 a0005c0016t0043 a0006c0013t0003 a0007c0012t0014	a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0005g0024 others(67): Show a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0005g0024 a0001c0001t0005g0032 a0001c0001t0008g0065 a0001c0001t0017g0064 a0001c0001t0018g0072 a0001c0001t0020g0067 a0001c0001t0025g0068 a0001c0001t0026g0069 a0001c0001t0049g0031 a0001c0001t0051g0019 a0001c0001t0055g0012 a0001c0001t0057g0006 a0001c0001t0061g0023 a0001c0002t0001g0029 a0001c0002t0001g0055 a0001c0002t0001g0076 a0001c0002t0010g0025 a0001c0002t0011g0038 a0001c0002t0016g0028 a0001c0002t0019g0041 a0001c0002t0024g0036 a0001c0002t0050g0052 a0001c0002t0054g0018 a0001c0002t0058g0013 a0001c0005t0030g0047 a0001c0005t0031g0003 a0001c0005t0036g0075 a0001c0005t0040g0030 a0001c0005t0042g0037 a0001c0005t0063g0022 a0001c0006t0032g0005 a0001c0006t0034g0039 a0001c0006t0041g0002 a0001c0006t0064g0007 a0001c0006t0066g0021 a0002c0003t0002g0004 a0002c0003t0004g0044 a0002c0003t0006g0034 a0002c0003t0009g0070 a0002c0003t0013g0027 a0002c0003t0022g0054 a0002c0003t0023g0001 a0002c0003t0029g0059 a0002c0003t0052g0014 a0002c0003t0053g0010 a0002c0003t0056g0016 a0002c0003t0059g0011 a0002c0004t0003g0050 a0002c0004t0012g0040 a0002c0004t0033g0062 a0002c0004t0039g0053 a0002c0004t0067g0008 a0002c0004t0068g0020 a0002c0007t0002g0073 a0002c0007t0007g0049 a0002c0007t0021g0063 a0002c0008t0027g0042 a0002c0008t0060g0015 a0002c0015t0037g0051 a0003c0009t0015g0066 a0003c0009t0062g0017 a0003c0011t0004g0071 a0004c0010t0035g0060 a0004c0010t0038g0057 a0004c0017t0044g0043 a0005c0016t0043g0058 a0006c0013t0003g0046 a0007c0012t0014g0045	70	76	0.9211	-333	c.430 others(19): Show c.430-22099_430-21767del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LSS_chr21_46183446_46233774	46183495	CTGCAGGG others(326): Show CTGCAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAG CCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGAC CAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGA GGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCG GGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCT GGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01192.hp2 others(1): Show HG01069.hp2 HG01106.hp2 HG01192.hp2 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0120 a0001c0006t0010g0121 a0001c0006t0010g0122 others(1): Show a0001c0006t0010g0120 a0001c0006t0010g0121 a0001c0006t0010g0122 a0001c0006t0010g0123	4	358	0.0112	-333	c.72 others(11): Show c.7276_*7608del		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding					4950		chr21	TogoVar
MYO5C_chr15_52187322_52300804	52232986	AAAATAAA others(326): Show AAAATAAATAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAATTAAAAAAAAAAAAAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0006 a0007 a0012 a0013 a0015 a0016 a0019 a0021 a0022	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0020 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0002c0002 a0004c0012 a0004c0013 a0006c0009 a0007c0011 a0012c0016 a0013c0019 a0015c0021 a0016c0025 a0019c0023 a0021c0032 a0022c0033	a0001c0001t0013 a0001c0001t0042 a0001c0003t0003 others(54): Show a0001c0001t0013 a0001c0001t0042 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0015 a0001c0003t0016 a0001c0003t0020 a0001c0003t0021 a0001c0003t0029 a0001c0003t0030 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0004t0017 a0001c0004t0024 a0001c0004t0025 a0001c0004t0032 a0001c0004t0040 a0001c0004t0041 a0001c0004t0045 a0001c0004t0047 a0001c0006t0010 a0001c0006t0012 a0001c0006t0013 a0001c0006t0026 a0001c0020t0004 a0001c0026t0003 a0001c0027t0004 a0001c0028t0015 a0001c0030t0038 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 a0002c0002t0035 a0002c0002t0037 a0004c0012t0004 a0004c0013t0005 a0004c0013t0007 a0006c0009t0002 a0007c0011t0003 a0007c0011t0008 a0012c0016t0004 a0013c0019t0027 a0013c0019t0028 a0015c0021t0034 a0016c0025t0003 a0019c0023t0024 a0021c0032t0036 a0022c0033t0004	a0001c0001t0013g0118 a0001c0001t0042g0350 a0001c0003t0003g0018 others(171): Show a0001c0001t0013g0118 a0001c0001t0042g0350 a0001c0003t0003g0018 a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0066 a0001c0003t0004g0114 a0001c0003t0007g0108 a0001c0003t0007g0142 a0001c0003t0007g0143 a0001c0003t0007g0224 a0001c0003t0007g0319 a0001c0003t0007g0320 a0001c0003t0007g0327 a0001c0003t0007g0334 a0001c0003t0008g0011 a0001c0003t0008g0013 a0001c0003t0008g0019 a0001c0003t0008g0020 a0001c0003t0008g0021 a0001c0003t0008g0028 a0001c0003t0008g0030 a0001c0003t0008g0050 a0001c0003t0008g0051 a0001c0003t0008g0067 a0001c0003t0012g0025 a0001c0003t0015g0333 a0001c0003t0016g0052 a0001c0003t0020g0033 a0001c0003t0020g0053 a0001c0003t0021g0063 a0001c0003t0021g0065 a0001c0003t0029g0014 a0001c0003t0030g0010 a0001c0004t0001g0147 a0001c0004t0001g0347 a0001c0004t0002g0103 a0001c0004t0002g0308 a0001c0004t0002g0309 a0001c0004t0002g0310 a0001c0004t0002g0329 a0001c0004t0004g0084 a0001c0004t0004g0088 a0001c0004t0004g0098 a0001c0004t0004g0244 a0001c0004t0009g0099 a0001c0004t0015g0110 a0001c0004t0015g0112 a0001c0004t0015g0113 a0001c0004t0017g0005 a0001c0004t0017g0006 a0001c0004t0024g0341 a0001c0004t0025g0354 a0001c0004t0025g0356 a0001c0004t0032g0155 a0001c0004t0040g0342 a0001c0004t0041g0100 a0001c0004t0045g0151 a0001c0004t0047g0355 a0001c0006t0010g0074 a0001c0006t0010g0075 a0001c0006t0012g0069 a0001c0006t0012g0070 a0001c0006t0012g0072 a0001c0006t0012g0073 a0001c0006t0012g0076 a0001c0006t0013g0330 a0001c0006t0013g0331 a0001c0006t0013g0332 a0001c0006t0013g0335 a0001c0006t0026g0071 a0001c0020t0004g0216 a0001c0020t0004g0217 a0001c0026t0003g0015 a0001c0027t0004g0145 a0001c0028t0015g0323 a0001c0030t0038g0322 a0002c0002t0001g0091 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0094 a0002c0002t0002g0144 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0207 a0002c0002t0002g0212 a0002c0002t0002g0247 a0002c0002t0002g0259 a0002c0002t0002g0305 a0002c0002t0005g0079 a0002c0002t0005g0081 a0002c0002t0005g0085 a0002c0002t0005g0086 a0002c0002t0005g0089 a0002c0002t0005g0090 a0002c0002t0005g0093 a0002c0002t0005g0095 a0002c0002t0005g0096 a0002c0002t0005g0138 a0002c0002t0005g0174 a0002c0002t0005g0182 a0002c0002t0005g0205 a0002c0002t0005g0206 a0002c0002t0005g0208 a0002c0002t0005g0209 a0002c0002t0005g0210 a0002c0002t0005g0213 a0002c0002t0005g0214 a0002c0002t0005g0304 a0002c0002t0006g0130 a0002c0002t0006g0149 a0002c0002t0006g0150 a0002c0002t0006g0153 a0002c0002t0006g0161 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0165 a0002c0002t0006g0167 a0002c0002t0010g0012 a0002c0002t0010g0022 a0002c0002t0010g0023 a0002c0002t0010g0042 a0002c0002t0010g0043 a0002c0002t0010g0044 a0002c0002t0010g0045 a0002c0002t0010g0046 a0002c0002t0019g0299 a0002c0002t0035g0105 a0002c0002t0037g0211 a0004c0012t0004g0321 a0004c0012t0004g0326 a0004c0012t0004g0328 a0004c0013t0005g0336 a0004c0013t0005g0338 a0004c0013t0007g0337 a0006c0009t0002g0097 a0006c0009t0002g0101 a0006c0009t0002g0307 a0006c0009t0002g0349 a0006c0009t0002g0351 a0006c0009t0002g0352 a0007c0011t0003g0016 a0007c0011t0003g0034 a0007c0011t0003g0035 a0007c0011t0008g0017 a0012c0016t0004g0004 a0013c0019t0027g0007 a0013c0019t0028g0008 a0015c0021t0034g0104 a0016c0025t0003g0009 a0019c0023t0024g0348 a0021c0032t0036g0314 a0022c0033t0004g0092	175	360	0.4861	-333	c.296 others(17): Show c.2963-634_2963-302del		MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	23/40						chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685910	TCCCCCGC others(326): Show TCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	362	0.0028	-333	c.981 others(17): Show c.981+1769_981+2101del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686190	GAGAACAG others(326): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18943.hp1 NA18954.hp1 others(3): Show HG02015.hp1 NA18943.hp1 NA18954.hp1 NA18977.hp1 NA18994.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0114 a0002c0002t0002g0126 a0002c0002t0002g0127 others(3): Show a0001c0001t0002g0114 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0166 a0002c0002t0002g0180 a0002c0002t0002g0181	6	362	0.0166	-333	c.981 others(17): Show c.981+1489_981+1821del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686378	GCCCAGCC others(326): Show GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	362	0.0028	-333	c.981 others(17): Show c.981+1301_981+1633del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686408	GGGGCCCC others(326): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0320 a0002c0002t0001g0320	1	362	0.0028	-333	c.981 others(17): Show c.981+1271_981+1603del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687576	GAGAACAG others(326): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	362	0.0028	-333	c.981 others(15): Show c.981+103_981+435del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCMT1_chr6_149744741_149816419	149762518	GATATATA others(326): Show GATATATATATCTATGATATATATATCTATGATATATATATATCTATGAT ATATATATCTATGATATATATATCTATGATATATATATCTATGATATATA TATATCTATGATATATATATATCTATGATATATATATGATATATATATCT ATGATATATATATATCTATGATATATATATATCTATGATATATATATCTA TGATATATATATCTATGATATATATATATCTATGATATATATACCTATGA TATATATATACCTATGATATATATACCTATGATATATATATCTATGATAA TCTATGATATATATGATATATATATCTATGATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(219): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(218): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0005g0139 a0001c0001t0006g0215 a0001c0001t0007g0289 a0001c0001t0008g0295 a0001c0001t0009g0146	222	334	0.6647	-333	c.56- others(15): Show c.56-8639_56-8307del		PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNX1_chr14_70902459_71120382	70971110	ATATAGTT others(326): Show ATATAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGACTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(249): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0020 a0001c0022 a0001c0026 a0002c0005 a0002c0023 a0003c0007 a0004c0011 a0005c0009 a0006c0012 a0007c0027 a0008c0017 a0009c0024 a0010c0019 a0012c0021 a0013c0018 a0014c0015 a0015c0025 a0017c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0076 a0001c0001t0077 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0002t0025 a0001c0002t0046 a0001c0002t0047 a0001c0003t0013 a0001c0004t0005 a0001c0004t0007 a0001c0004t0009 a0001c0004t0014 a0001c0006t0029 a0001c0006t0062 a0001c0008t0022 a0001c0010t0071 a0001c0010t0072 a0001c0013t0031 a0001c0014t0004 a0001c0016t0004 a0001c0020t0010 a0001c0022t0001 a0001c0026t0051 a0002c0005t0026 a0002c0005t0048 a0002c0005t0050 a0002c0023t0049 a0003c0007t0004 a0003c0007t0015 a0004c0011t0032 a0005c0009t0008 a0005c0009t0015 a0006c0012t0002 a0007c0027t0054 a0008c0017t0034 a0009c0024t0065 a0010c0019t0008 a0012c0021t0017 a0013c0018t0041 a0014c0015t0063 a0015c0025t0004 a0017c0031t0075	a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0159 others(248): Show a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0119 a0001c0001t0004g0116 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0175 a0001c0001t0004g0178 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0196 a0001c0001t0004g0213 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0230 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0240 a0001c0001t0008g0115 a0001c0001t0008g0117 a0001c0001t0008g0157 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0166 a0001c0001t0008g0173 a0001c0001t0008g0190 a0001c0001t0008g0198 a0001c0001t0008g0223 a0001c0001t0008g0225 a0001c0001t0008g0243 a0001c0001t0008g0245 a0001c0001t0010g0147 a0001c0001t0010g0149 a0001c0001t0010g0152 a0001c0001t0010g0155 a0001c0001t0010g0162 a0001c0001t0010g0172 a0001c0001t0010g0177 a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0216 a0001c0001t0010g0237 a0001c0001t0010g0238 a0001c0001t0015g0200 a0001c0001t0015g0201 a0001c0001t0015g0202 a0001c0001t0015g0226 a0001c0001t0017g0009 a0001c0001t0017g0035 a0001c0001t0017g0049 a0001c0001t0020g0022 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0024g0051 a0001c0001t0024g0052 a0001c0001t0027g0191 a0001c0001t0027g0207 a0001c0001t0028g0127 a0001c0001t0028g0128 a0001c0001t0033g0003 a0001c0001t0037g0046 a0001c0001t0038g0036 a0001c0001t0039g0006 a0001c0001t0040g0005 a0001c0001t0042g0034 a0001c0001t0043g0023 a0001c0001t0044g0012 a0001c0001t0045g0008 a0001c0001t0052g0211 a0001c0001t0053g0174 a0001c0001t0055g0194 a0001c0001t0056g0246 a0001c0001t0057g0156 a0001c0001t0058g0220 a0001c0001t0059g0181 a0001c0001t0060g0180 a0001c0001t0061g0193 a0001c0001t0076g0199 a0001c0001t0077g0195 a0001c0002t0005g0001 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0059 a0001c0002t0005g0065 a0001c0002t0005g0068 a0001c0002t0005g0071 a0001c0002t0005g0074 a0001c0002t0005g0079 a0001c0002t0005g0087 a0001c0002t0005g0091 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0007g0060 a0001c0002t0007g0061 a0001c0002t0007g0075 a0001c0002t0007g0084 a0001c0002t0007g0085 a0001c0002t0007g0088 a0001c0002t0007g0089 a0001c0002t0007g0102 a0001c0002t0007g0106 a0001c0002t0007g0110 a0001c0002t0007g0120 a0001c0002t0007g0121 a0001c0002t0009g0066 a0001c0002t0009g0067 a0001c0002t0009g0069 a0001c0002t0009g0070 a0001c0002t0009g0072 a0001c0002t0009g0073 a0001c0002t0009g0077 a0001c0002t0009g0078 a0001c0002t0009g0090 a0001c0002t0009g0103 a0001c0002t0009g0107 a0001c0002t0014g0062 a0001c0002t0014g0063 a0001c0002t0014g0064 a0001c0002t0014g0076 a0001c0002t0014g0092 a0001c0002t0025g0002 a0001c0002t0025g0058 a0001c0002t0046g0081 a0001c0002t0047g0111 a0001c0003t0013g0134 a0001c0003t0013g0135 a0001c0003t0013g0136 a0001c0003t0013g0137 a0001c0003t0013g0138 a0001c0003t0013g0139 a0001c0003t0013g0140 a0001c0003t0013g0141 a0001c0003t0013g0142 a0001c0003t0013g0143 a0001c0003t0013g0144 a0001c0004t0005g0082 a0001c0004t0005g0083 a0001c0004t0005g0093 a0001c0004t0007g0094 a0001c0004t0007g0096 a0001c0004t0007g0098 a0001c0004t0009g0086 a0001c0004t0009g0095 a0001c0004t0009g0099 a0001c0004t0014g0080 a0001c0004t0014g0097 a0001c0006t0029g0122 a0001c0006t0029g0132 a0001c0006t0062g0130 a0001c0008t0022g0104 a0001c0008t0022g0105 a0001c0010t0071g0351 a0001c0010t0072g0350 a0001c0013t0031g0348 a0001c0013t0031g0349 a0001c0014t0004g0241 a0001c0016t0004g0179 a0001c0020t0010g0210 a0001c0022t0001g0184 a0001c0026t0051g0133 a0002c0005t0026g0124 a0002c0005t0026g0129 a0002c0005t0048g0126 a0002c0005t0050g0125 a0002c0023t0049g0123 a0003c0007t0004g0150 a0003c0007t0015g0160 a0003c0007t0015g0212 a0004c0011t0032g0112 a0004c0011t0032g0113 a0005c0009t0008g0214 a0005c0009t0015g0145 a0006c0012t0002g0044 a0006c0012t0002g0045 a0007c0027t0054g0146 a0008c0017t0034g0033 a0009c0024t0065g0114 a0010c0019t0008g0118 a0012c0021t0017g0039 a0013c0018t0041g0053 a0014c0015t0063g0131 a0015c0025t0004g0218 a0017c0031t0075g0054	252	352	0.7159	-333	c.604 others(17): Show c.604+2010_604+2342del		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	5/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PDE4B_chr1_65787895_66379574	65798226	GGCCAGGC others(326): Show GGCCAGGCTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00738.hp2 others(79): Show HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18954.hp1 NA18986.hp2 NA18990.hp1 NA19010.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0003g0001 a0001c0001t0003g0027 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0077 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0005g0064 a0001c0001t0006g0030 a0001c0001t0006g0033 a0001c0001t0006g0054 a0001c0001t0008g0057 a0001c0001t0008g0070 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0010g0043 a0001c0001t0011g0002 a0001c0001t0014g0058 a0001c0001t0015g0045 a0001c0001t0016g0034 a0001c0001t0017g0053 a0001c0001t0018g0052 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0004g0005 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0013g0020 a0002c0003t0001g0061 a0002c0003t0002g0065	82	118	0.6949	-333	c.-71 others(17): Show c.-71+4993_-71+5325del		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PIAS4_chr19_4002736_4044386	4041696	AGTGCTGG others(326): Show AGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTTGAAGGGAAAT TGTATGGTATGTGAATTATATTTTTGTATTTTTATTTTTGAGACAGGGTC TCACTCTATCGCCCAGGCTGGAGTGCAGTGGTGTAATCATAGCTCACTGC AGCCTCGACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCAGAGT AGCTGAGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTGTATTTT TTGCAGAGACGTGGTTTCACCTTGTTTTTCTGGCTGGTCTCGAACTCCTG GGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	334	0.0030	-333	c.38 others(11): Show c.3822_*4154del		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding					2311		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834493	TCTGGACT others(326): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01256.hp1 NA19074.hp2 others(1): Show HG00741.hp2 HG01256.hp1 NA19074.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0125 a0002c0002t0002g0024 a0002c0002t0002g0034 others(1): Show a0001c0001t0001g0125 a0002c0002t0002g0024 a0002c0002t0002g0034 a0002c0002t0002g0039	4	300	0.0133	-333	c.24 others(11): Show c.2463_*2795del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2603		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50405540	AAGAGGCC others(326): Show AAGAGGCCTGGAGAGAGGTGAGAGGCCTGGCAGGCGAGTGTGAAGGCCTG GAGAGAGGTGAGAGGCCTGGAGAGAAGTGAGAGGCCTGGCAGGCGAGTGT GAAGGCCTGGAGAGAGGTGAGAGGCCTGGAGAGAAGTGAGAGGCCTGGCA GGCGAGTGTGAAGGCCTGGAGAGAGGTGAGAGGCCTGGAGAGAGGTAAGA GGCCTGGCAGGTGAGTGTGAAGGCCTGGAGAGAGGTGAGAGGCCTGGAGA GAGGTGAGAGGCCTGGAGAGAGGCGAGAGGCCTGGCAGGTGAGTGTGAAG GCCTGGAGGGAGGTGAGAGGCCTGGAGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0044 a0001c0003t0018g0044	1	340	0.0029	-333	c.228 others(16): Show c.228-1074_228-742del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCA_chr17_66297613_66815743	66799136	GTGGTGGT others(326): Show GTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0090 a0001c0001t0017g0114 a0001c0001t0017g0090 a0001c0001t0017g0114	2	178	0.0112	-333	c.185 others(19): Show c.1855-4728_1855-4396del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2106538	ACCTCCAC others(326): Show ACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTC AGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGG TAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACC AGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACA CGTGTCACCAGGCCAGGCGACTCTTCAGCAAGCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 NA18906.hp1 HG02922.hp2 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029	3	286	0.0105	-333	c.335 others(19): Show c.335-28697_335-28365del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123771	TGGTTAGG others(326): Show TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCG GTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGCGGTTAG GGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGG TTAGGGTCACGGCGGCGGTTAGGGTCACGGCGAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	286	0.0035	-333	c.335 others(19): Show c.335-11480_335-11148del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RBBP8_chr18_22928328_23031486	22980381	TAAACGGT others(326): Show TAAACGGTAAAATTCCAGCAGACTTGAAGGAGATTAGAGAGATAATTAGG TATGTAGGTATCTGGGGATGAGCATTCCAAGCAGGTGGAACAATTGGTGC AAAGAACCTAAGGTGGGAGTATGCTTGGTGTGTTTGGGGAACCTCAAGGA AGAGAGTGTGGCAGGAGTAGAGTATAATAGGAAAAAAGGTCAGAGAGGAA AAATGGGAGGGGCACCATCAGGTCATGTAGGATCTTCATGGATCAAAGGA CTTTGGCTTGTGTTCTCAGTGAAATGAGCAGATGTGACAGGGTTTTCATG AGATTTCATCCATATGACTTAAGTCTTTTTGGGG	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0198 a0001c0011t0001g0198	1	330	0.0030	-333	c.429 others(17): Show c.429-1836_429-1504del		RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	6/18						chr18	TogoVar
SARDH_chr9_133658560_133743352	133668838	ACCCTCCC others(326): Show ACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACC CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCT CCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCT CTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0127 a0002c0018t0003g0127	1	262	0.0038	-333	c.249 others(19): Show c.2495+1413_2495+1745del		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SBNO2_chr19_1102638_1179268	1148485	CCACCCCA others(326): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCATCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0094 a0002c0008t0001g0094	1	203	0.0049	-333	c.167 others(15): Show c.167+551_167+883del		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31						chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43281063	CTCCTGTC others(326): Show CTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACC CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTG TCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTC ACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATC TCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCC CTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	280	0.0036	-333	c.484 others(17): Show c.484+9650_484+9982del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17574530	TTTTTGAG others(326): Show TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAATGGCGT CGTTTCGGCTCACTGCAATCACCACCTCCCGGGTTCAAGCGATTCTCCTG CGTCAGCCTCCCGAGCAGTTGGGATTACAGGCACGTGCCATCACGTCTCG CCTGACTGATTTTTGTGTTTTTAGTAGAGACGGAGTTTCACTATGTTGGC CAGGCTGGTCTCGAACTCCTGACCTCCTGATCCACCCACCCTCGGCCTCC CAGAATGCTGGTATCACAGGCGTGAGCCACTGTGCCTGGCCAATGTTCCC TTTATTATTATTATTATTATTATTTATATATGTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG03471.hp1 others(1): Show HG01891.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	4	410	0.0098	-333	c.-20 others(19): Show c.-201+4549_-200-4878del		SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
SNTG2_chr2_945849_1372613	1012759	GAGAAGGA others(326): Show GAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGA AGAGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGA GAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAA GGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 NA21309.hp1 HG02451.hp1 HG03453.hp1 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0007 a0006c0009 a0001c0002 a0003c0007 a0006c0009	a0001c0002t0002 a0003c0007t0002 a0006c0009t0001 a0001c0002t0002 a0003c0007t0002 a0006c0009t0001	a0001c0002t0002g0076 a0003c0007t0002g0075 a0006c0009t0001g0050 a0001c0002t0002g0076 a0003c0007t0002g0075 a0006c0009t0001g0050	3	190	0.0158	-333	c.72+ others(17): Show c.72+61695_72+62027del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013462	TAGAGGGA others(326): Show TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGA GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0001 a0016c0034t0001	a0016c0034t0001g0146 a0016c0034t0001g0146	1	190	0.0053	-333	c.72+ others(17): Show c.72+62408_72+62740del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46183495	CTGCAGGG others(326): Show CTGCAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAG CCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGAC CAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGA GGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCG GGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCT GGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01069.hp2 HG01106.hp1 HG01192.hp1 others(1): Show HG01069.hp2 HG01106.hp1 HG01192.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0040 a0001c0001t0016 a0001c0001t0040	a0001c0001t0016g0034 a0001c0001t0016g0068 a0001c0001t0016g0069 others(1): Show a0001c0001t0016g0034 a0001c0001t0016g0068 a0001c0001t0016g0069 a0001c0001t0040g0067	4	251	0.0159	-333	c.-95 others(12): Show c.-958-54_-680del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				680		chr21	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76982787	AAGCCCAT others(326): Show AAGCCCATCAGACTAACAGCAGATCTCTCAGCGGAAAGCCTAAAAGCCAG AAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAGAAGAAATTTCAAC CCAGATTTCATATCCAGCCAAACAAAGCTTCATACGTGAAGGAGAAATAA AATCCTTTACAGGCAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCT GCTTTACAAGAGCTCCTGAAGGAGGCACTAAACATGGAAAGGAACAACCA GTACCAGCCACTGCAAAAATATGCCAAATTGTAAAGACCATCGATGCTAG GAAGAAACTGCATCAATTAACAGGCAAAATAACC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18971.hp2 NA18989.hp2 others(4): Show HG03017.hp1 NA18971.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA19074.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0136 others(4): Show a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0003g0067 a0001c0001t0003g0120 a0001c0001t0003g0121	7	202	0.0347	-333	c.262 others(19): Show c.262-61413_262-61081del		ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
TCERG1_chr5_146442333_146516961	146451693	ATATACTT others(326): Show ATATACTTGGTGTAGTAGTTCTGGACTTGTTTACAGTCCTGGTTATACCA GGACTGTAAACAAGTCCAGAAGGCAAATTAGTTTTTTTTTTTTTTAATTT TTTAATTTTTTTGAGACTTGAGTCTCGCTCTCTTGCCCAGGCTGGAATGC GGTGGTGCAATATCGGCTCACTGCAACCTCTGCCTCCTGGGTTTGAGTGA TTGTCATGCCTCAACCTCTCAAGTAGCTGGGGCTACAGGCATGCACCACC ATGCTTGGCTGATTTTTGTATTTTTAATAGACTCAGGGTTTTGCTATGTT GGCCAGGCTGGTCTCGAACTCCTGGCTTCAAGTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	320	0.0031	-333	c.60- others(15): Show c.60-3362_60-3030del		TCERG1	ENSG00000113649.14	transcript	ENST00000679501.2	protein_coding	1/22						chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)